Cited by 203Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

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Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome

Hardelin, Jean-Pierre, Levilliers, Jacqueline, Blanchard, Stéphane, Carel, Jean-Claude, Leutenegger, Marc, Pinard-Bertelletto, Jean-Pierre, Bouloux, Pierre, Petit, Christine·1993·Human Molecular Genetics

DOI 10.1093/hmg/2.4.373

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Abstract

Kallmann syndrome represents the association of hypogonadotropic hypogonadism with anosmia. Three modes of transmission, X chromosome-linked, autosomal recessive and autosomal dominant, have been described. The KAL gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization recently determined. We have searched for mutations of the KAL gene in 21 unrelated males affected by familial Kallmann syndrome. In these families, segregation of the disease was suggestive of the X-linked mode of transmission. In 2 families, large Xp22.3 deletions, both including the entire KAL gene, have been detected by Southern blot analysis. Here we report the sequence analysis of the entire coding region of the KAL gene in the 19 remaining patients. The approach consisted of sequencing each of the 14 coding exons and splice site junctions. Each exon was amplified by PCR on the genomic DNA, using oligonucleotides from the flanking intronic sequences as specific primers. Nine point mutations were identified at separate locations in four exons and one splice site, providing strong evidence for heterogeneity in mutations responsible for the X-linked Kallmann syndrome. In addition, the high frequency of unilateral renal aplasia in X-linked Kallmann patients (6 out of 11 males with identified alterations of the KAL gene) should be emphasized.

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BackgroundInfluential
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Franco, B., & Ballabio, A. (2000) · Birkhäuser Basel eBooks · doi:10.1007/978-3-0348-8484-6_17
Approche moléculaire de la pathogénie d'un deficit héréditaire de l'olfaction : Le syndrome de Kallmann de Morsier lie au chromosome X
Soussi‐Yanicostas, N., Hardelin, J., Levilliers, J., Ardouin, O., Legouis, R., Cohen‐Salmon, M., & Petit, C. (1995) · Annales de l Institut Pasteur / Actualités · doi:10.1016/0924-4204(96)83385-3
Self-citation
The Frequency and Types of Chromosomal Aberrations in the Patients with
Süleymanova, D., Çetinel, N., Yaşar, Y., et al. (2015)
Une altération génétique peut-elle être à l’origine d’une infertilité masculine et féminine ?
Vialard, F., & Boudjenah, R. (2010) · Basic and Clinical Andrology · doi:10.1007/s12610-009-0058-3
“• les gènes sur le chromosome X dont les mutations sont à l’origine d’un syndrome uniquement chez l’homme : KAL1 dont les anomalies sont responsables du syndrome Kallmann lié au chromosome X, associant IHH et anosmie [14] ; DAX1 (ou NR0B1) associant IHH et insuffisance surrénalienne [15] ;”
Background
AB132. The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome
Zhang, S., Xu, H., Wang, T., et al. (2014) · PubMed Central · doi:10.3978/j.issn.2223-4683.2014.s132
Veränderungen der DNA-Methylierung bei männlicher Infertilität
Friemel, C. (2015) · Multimedialen Archiv und Publikationsserver der Christian-Albrechts-Universität zu Kiel (Christian-Albrechts-Universität zu Kiel)
Physiology of the Hypothalamic-Pituitary-Testicular Complex: A View by Stages in the Light of Recent Advances
Ansari, N. E., Mghari, G. E., Vi, M., & Abbad, S. (2014)
States of Pituitary Hypofunction
Romero, C. J., Jones, A. L., & Radovick, S. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-800892-8.00006-3
Mechanisms underlying co-contraction during development and in pathology in man
Mayston, M. J. (1996) · UCL Discovery (University College London)
Male hypogonadotropic hypogonadism in various genetic disorders
Niedobylski, S., Laszczak, K., Warchoł, K., Marczak, A., Dobosz, M., Lewicki, M., & Obel, E. (2020) · Journal of Education Health and Sport · doi:10.12775/jehs.2020.10.09.017
“Coexisting hypogonadotropic hypogonadism and anosmia is enough for KS clinical diagnosis, although the disease can present with various other anomalies, such as facial dysmorphia (cleft lip and/or palate [25], [31], [32], hypodontia [25], [33]), congenital ptosis [34], [35], hear impairment [31], [32], abnormal ocular…”
Background
Une rare association d'un hypgonadisme hypogonadotrophique et d'un carcinome à cellules claires du rein (hasard ou faits corrélés?)
Belaisch, J., & Scetbon, V. (1996) · Andrologie · doi:10.1007/bf03034467
Delayed Puberty
Haddad, N. G., & Eugster, E. A. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-5583-9.00122-2
Disorders of Puberty
Styne, D. M. (2002) · Humana Press eBooks · doi:10.1007/978-1-59259-277-7_20 · Cited by 2
10.1016/s1047-9422(02)00055-x
(2000) · Time to knit · doi:10.1016/s1047-9422(02)00055-x

Authors: Hardelin, J.-P., Levilliers, J., Blanchard, S., Carel, J.-C., Leutenegger, M., Pinard-Bertelletto, J.-P., Bouloux, P., & Petit, C.
Affiliations: Centre National de la Recherche Scientifique (FR)
Hôpital Saint-Vincent-de-Paul (FR)
Royal Free London NHS Foundation Trust (GB)
Corresponding author: Petit, Christine
ORCID: Hardelin, Jean-Pierre
Carel, Jean-Claude
Petit, Christine
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 1993
Volume: 2
Issue: 4
Pages: 373-377
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/2.4.373
OpenAlex: W2153635587
Cited by: 203
References: 0
Citations by year: 2024: 1 · 2023: 2 · 2022: 3 · 2021: 1 · 2020: 2 · 2018: 1 · 2017: 2 · 2016: 4 · 2015: 10 · 2014: 4 · 2013: 10 · 2012: 5
FWCI: 7.49
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
HAL (submittedVersion)
HighWire Press Open Archive (submittedVersion)
Topics: Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Keywords: KAL1, hypogonadotropic hypogonadism, anosmia, mutational heterogeneity, point mutations, splice site mutation, renal aplasia, X-linked inheritance
MeSH terms: Amino Acid Sequence, Base Sequence, DNA, DNA Mutational Analysis, Humans, Genetic Linkage, Male, Molecular Sequence Data, Mutation, Oligodeoxyribonucleotides, X Chromosome, Point Mutation, Sequence Deletion, Kallmann Syndrome

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Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome

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